| Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families R Harripaul, N Vasli, A Mikhailov, MA Rafiq, K Mittal, C Windpassinger, ... Molecular psychiatry 23 (4), 973-984, 2018 | 175 | 2018 |
| Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features A Johansen, RO Rosti, D Musaev, E Sticca, R Harripaul, M Zaki, ... The American Journal of Human Genetics 99 (4), 912-916, 2016 | 90 | 2016 |
| The use of next-generation sequencing for research and diagnostics for intellectual disability R Harripaul, A Noor, M Ayub, JB Vincent Cold Spring Harbor Perspectives in Medicine 7 (3), a026864, 2017 | 55 | 2017 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 41 | 2020 |
| Towards precision medicine in generalized anxiety disorder: Review of genetics and pharmaco (epi) genetics J Tomasi, AJ Lisoway, CC Zai, R Harripaul, DJ Müller, GCM Zai, ... Journal of psychiatric research 119, 33-47, 2019 | 34 | 2019 |
| The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations A Villani, S Davidson, N Kanwar, WW Lo, Y Li, S Cohen-Gogo, F Fuligni, ... Nature Cancer 4 (2), 203-221, 2023 | 31 | 2023 |
| De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder GM Mirzaa, JX Chong, A Piton, B Popp, K Foss, H Guo, R Harripaul, K Xia, ... Genetics in Medicine 22 (3), 538-546, 2020 | 31 | 2020 |
| Prediction of physical violence in schizophrenia with machine learning algorithms KZ Wang, A Bani-Fatemi, C Adanty, R Harripaul, J Griffiths, N Kolla, ... Psychiatry research 289, 112960, 2020 | 28 | 2020 |
| A comprehensive analysis of mitochondrial genes variants and their association with antipsychotic-induced weight gain K Mittal, VF Gonçalves, R Harripaul, AB Cuperfain, B Rollins, AK Tiwari, ... Schizophrenia research 187, 67-73, 2017 | 26 | 2017 |
| Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability K Mittal, MA Rafiq, R Rafiullah, R Harripaul, H Ali, M Ayaz, M Aslam, ... Journal of human genetics 61 (10), 867-872, 2016 | 24 | 2016 |
| Biallelic missense variants in ZBTB11 can cause intellectual disability in humans Z Fattahi, TI Sheikh, L Musante, M Rasheed, II Taskiran, R Harripaul, ... Human molecular genetics 27 (18), 3177-3188, 2018 | 20 | 2018 |
| MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro TI Sheikh, R Harripaul, M Ayub, JB Vincent Human Mutation 39 (5), 717-728, 2018 | 19 | 2018 |
| Antidepressant-associated mania in bipolar disorder: a review and meta-analysis of potential clinical and genetic risk factors LMM Beaupre, AK Tiwari, VF Gonçalves, AJ Lisoway, RS Harripaul, ... Journal of Clinical Psychopharmacology 40 (2), 180-185, 2020 | 17 | 2020 |
| Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability TI Sheikh, N Vasli, S Pastore, K Kharizi, R Harripaul, Z Fattahi, S Pande, ... Translational Psychiatry 11 (1), 1, 2021 | 15 | 2021 |
| Three mutations in the bilateral frontoparietal polymicrogyria gene GPR56 in Pakistani intellectual disability families HA Sawal, R Harripaul, A Mikhailov, K Vleuten, F Naeem, T Nasr, ... Journal of Pediatric Genetics 7 (02), 060-066, 2018 | 13 | 2018 |
| Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations V Sriretnakumar, R Harripaul, JB Vincent, JL Kennedy, J So American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 180 …, 2019 | 11 | 2019 |
| Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan. HA Sawal, R Harripaul, A Mikhailov, R Dad, M Ayub, M Jawad Hassan, ... Clinical genetics 90 (6), 2016 | 11 | 2016 |
| Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations H Gul, AH Shah, R Harripaul, A Mikhailov, K Prajapati, E Khan, F Ullah, ... Annals of Human Genetics 83 (4), 278-284, 2019 | 9 | 2019 |
| Exome sequencing identifies novel and known mutations in families with intellectual disability M Rasheed, V Khan, R Harripaul, M Siddiqui, MA Malik, Z Ullah, M Zahid, ... BMC Medical Genomics 14 (1), 1-12, 2021 | 8 | 2021 |
| GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates Q Ouyang, BC Kavanaugh, L Joesch-Cohen, B Dubois, Q Wu, M Schmidt, ... Human genetics 138, 1183-1200, 2019 | 8 | 2019 |
John VincentCentre for Addiction & Mental Health, Toronto, CanadaVerified email at camh.ca
